Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations
新发现的ARF3变异体加强了高尔基体碎裂与脑畸形之间的因果关系。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-02001-w
Muto, Valentina; Fasano, Giulia; Radio, Francesca Clementina; Pedalino, Catia; Carvetta, Mattia; Coppola, Simona; Zara, Erika; Petrini, Stefania; Schluth-Bolard, Caroline; Bilbault, Claire; El Chehadeh, Salima; Gérard, Bénédicte; de Saint-Martin, Anne; Koboldt, Daniel C; Sites, Emily; Curry, Cynthia; Herget, Theresia; Höing, Ann-Sophie; von Elsner, Leonie; Barr, Eileen Elizabeth; Hodoglugil, Ugur; Slavotinek, Anne; Tartaglia, Marco; Lauri, Antonella